Property Summary

NCBI Gene PubMed Count 17
PubMed Score 111.67
PubTator Score 21.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
C syndrome 1 0.0 0.0
Disease Target Count
Intellectual disability 1016
Abnormality of cardiovascular system morphology 23
Abnormality of immune system physiology 16
Abnormality of the anus 6
Accessory oral frenulum 3
Acquired scoliosis 281
Anteverted nostril 191
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Biparietal narrowing 28
Bohring syndrome 2
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital dislocation of radial head 14
Congenital omphalocele 20
Cryptorchidism 296
Curvature of digit 57
Curvature of little finger 110
Curvature of spine 282
Cutis Laxa 39
Decreased joint mobility 53
Decreased width of the skull 28
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Epilepsy 792
Failure to gain weight 365
Failure to thrive in infancy 32
Female Pseudohermaphroditism 5
Fibular polydactyly 12
Fused sternal ossification centers 1
Generalized elastolysis 24
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Hanging skin 24
Hepatomegaly 285
Hypertrophy of clitoris 40
Hypoplasia of the ear cartilage 2
Hypoplastic mandible condyle 275
Long philtrum 137
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Macrostomia 72
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Micromelia 58
Midline facial capillary hemangioma 2
Muscle hypotonia 571
Nasal bridge wide 236
Opitz trigonocephaly syndrome 1
Patent ductus arteriosus 90
Pectus excavatum 100
Pediatric failure to thrive 365
Poor school performance 645
Postaxial foot polydactyly 12
Posteriorly rotated ear 61
Radially deviated fingers 38
Redundant skin 28
Renal cortical cysts 4
Sacral dimples 18
Seizures 596
Short metacarpal 43
Short neck 140
Short nose 132
Short stature 531
Small head 374
Small nose 132
Smooth philtrum 43
Strabismus 270
Syndactyly of the toes 45
Talipes 20
Talipes foot deformities 20
Thick anterior alveolar ridges 1
Thin lips 49
Triangular head shape 10
Trigonocephaly 10
Ulnar deviation of the fingers 21
Ulnar polydactyly of fingers 47
Upward slant of palpebral fissure 75
Ventricular Septal Defects 119
Wedge shaped head 10
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Chronic obstructive pulmonary disease 184 0.0 2.7
Disease Target Count Z-score Confidence
Craniosynostosis 74 0.0 4.0
Disease Target Count
Bohring-Opitz syndrome 2

Expression

  Differential Expression (7)

Disease log2 FC p
acute myeloid leukemia 4.000 3.0e-02
cutaneous lupus erythematosus 1.900 4.9e-03
interstitial cystitis 1.300 5.0e-02
lung carcinoma -2.500 1.1e-20
osteosarcoma -2.161 5.0e-05
primary Sjogren syndrome 1.500 2.1e-03
tuberculosis and treatment for 3 months -1.600 3.0e-05

Gene RIF (11)

AA Sequence

MEKKWKYCAVYYIIQIHFVKGVWEKTVNTEENVYATLGSDVNLTCQTQTVGFFVQMQWSKVTNKIDLIAV      1 - 70
YHPQYGFYCAYGRPCESLVTFTETPENGSKWTLHLRNMSCSVSGRYECMLVLYPEGIQTKIYNLLIQTHV     71 - 140
TADEWNSNHTIEIEINQTLEIPCFQNSSSKISSEFTYAWSVENSSTDSWVLLSKGIKEDNGTQETLISQN    141 - 210
HLISNSTLLKDRVKLGTDYRLHLSPVQIFDDGRKFSCHIRVGPNKILRSSTTVKVFAKPEIPVIVENNST    211 - 280
DVLVERRFTCLLKNVFPKANITWFIDGSFLHDEKEGIYITNEERKGKDGFLELKSVLTRVHSNKPAQSDN    281 - 350
LTIWCMALSPVPGNKVWNISSEKITFLLGSEISSTDPPLSVTESTLDTQPSPASSVSPARYPATSSVTLV    351 - 420
DVSALRPNTTPQPSNSSMTTRGFNYPWTSSGTDTKKSVSRIPSETYSSSPSGAGSTLHDNVFTSTARAFS    421 - 490
EVPTTANGSTKTNHVHITGIVVNKPKDGMSWPVIVAALLFCCMILFGLGVRKWCQYQKEIMERPPPFKPP    491 - 560
PPPIKYTCIQEPNESDLPYHEMETL                                                 561 - 585
//

Text Mined References (18)

PMID Year Title